Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194876 | SCV000247371 | uncertain significance | not specified | 2014-11-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000194876 | SCV000250136 | benign | not specified | 2014-10-21 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000228293 | SCV000287283 | benign | Congenital contractural arachnodactyly | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000194876 | SCV000308656 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Ambry Genetics | RCV002310754 | SCV000317395 | likely benign | Familial thoracic aortic aneurysm and aortic dissection | 2016-02-29 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
ARUP Laboratories, |
RCV001812183 | SCV001472078 | benign | not provided | 2019-08-08 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002277456 | SCV002566600 | likely benign | Connective tissue disorder | 2022-02-10 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000194876 | SCV004029387 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing |